Natural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy
Recruiting
Observational Study
Cardiomyopathy
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Age
0 – 18
Sex
Any
Study type
Observational
Participants needed
200 (estimated)
Sponsor
Tenaya Therapeutics · Industry
Who this trial is looking for
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The objective of this study is to collect information on patients with cardiomyopathy (CM) due to mutations in the MYBPC3 gene, to evaluate their disease course, burden of illness, risk factors for this disease, and the quality of life (QoL). This study will also collect information on treatments, procedures and outcome in infants and children up to 18 yrs who have this mutation.
Trial Locations
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Status
Eligibility Criteria
Retrospective
Inclusion Criteria:
* Data is available for patient \<18 years of age. Patients must be \<18 years of age at enrollment or at time of death.
* Documented results of genotyping showing the presence of at least one pathogenic or likely pathogenic MYBPC3 mutation (heterozygous, homozygo…
Retrospective
Inclusion Criteria:
* Data is available for patient \<18 years of age. Patients must be \<18 years of age at enrollment or at time of death.
* Documented results of genotyping showing the presence of at least one pathogenic or likely pathogenic MYBPC3 mutation (heterozygous, homozygous, or compound heterozygous).
Exclusion Criteria:
* Patient received cardiac transplantation or died \>10 years before study initiation. For homozygous or biallelic infants, data may be collected beyond this 10-year period.
Prospective
Inclusion Criteria:
For Infants:
* Infants who are homozygous or compound heterozygous for the known pathogenic truncating MYBPC3 mutations are eligible.
For all other participants:
* Age \<18 at entry into the prospective study.
* Documented results of genotyping identifying at least one pathogenic or likely pathogenic MYBPC3 mutation (heterozygous, homozygous, or compound heterozygous).
* Diagnosis of Cardiomyopathy (CM): HCM, DCM, RCM, mixed CM, or LVNC.
Exclusion Criteria:
* Concurrent participation in an interventional clinical trial unless approved by the sponsor.
* Severe noncardiac disease anticipated to significantly reduce life expectancy.
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